The HNF1B mutations and deletion associated with diabetes and their resulting diabetic phenotypes: a systematic review

IF 0.7 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM International Journal of Diabetes in Developing Countries Pub Date : 2024-02-07 DOI:10.1007/s13410-024-01319-3
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Abstract

Objective

Mutations or deletion in HNF1B gene has been found to be related to a special type of monogenetic diabetes (HNF1B-DM). However, the phenotypic features of HNF1B-DM and the related gene abnormalities remain unclear.

Methods

We systemically reviewed the literature associated with HNF1B-DM in PubMed, China National Knowledge Infrastructure (CNKI), and Wanfang databases. The mutations and clinical data of HNF1B-DM were recorded. The phenotypes between mutations and deletion in HNF1B were analyzed.

Results

In total, 261 eligible individuals were included. 64 mutations were reported in 134 patients, and another 127 patients carried a large deletion in HNF1B gene. The mutations were distributed throughout from exons 1 to 7, including missense, nonsense, frameshift, and splice site mutation. Body weight index (BMI) was available for 69 patients; 55 patients (79.7%) were normal or underweight. Of the 131 patients with available family history, 105 (80.2%) reported a family history of diabetes. Data on age at diagnosis of diabetes was recorded in 210 patients with a mean of 23.7 years. Estimated glomerular filtration rate was recorded in 52 patients with a median of 47.00 ml/min per 1.73 m2. Renal cysts were in 78.9%, pancreatic dysplasia in 78.6%, and hypomagnesemia in 64.3% of the patients. The patients with HNF1B deletion had different diabetic phenotypes from the patients with HNF1B point mutation.

Conclusions

HNF1B-DM patients were with younger onset age, normal or low BMI, renal cyst, pancreatic dysplasia, and hypomagnesemia. The patients should be recommended for genetic testing to differentiate HNF1BDM from other young-onset diabetes earlier.

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与糖尿病相关的 HNF1B 基因突变和缺失及其导致的糖尿病表型:系统综述
摘要 目的 发现 HNF1B 基因突变或缺失与一种特殊的单基因糖尿病(HNF1B-DM)有关。然而,HNF1B-DM 的表型特征及相关基因异常仍不清楚。 方法 我们在PubMed、中国知网(CNKI)和万方数据库中系统查阅了与HNF1B-DM相关的文献。记录了HNF1B-DM的基因突变和临床数据。分析HNF1B突变和缺失之间的表型。 结果 共纳入了 261 名符合条件的患者。134名患者中报告了64个基因突变,另有127名患者的HNF1B基因存在较大缺失。这些基因突变分布在 1 至 7 号外显子中,包括错义突变、无义突变、框架移位突变和剪接位点突变。69名患者有体重指数(BMI),其中55名患者(79.7%)体重正常或偏轻。在131名有家族史的患者中,105人(80.2%)有糖尿病家族史。210 名患者记录了诊断糖尿病时的年龄,平均为 23.7 岁。52 名患者记录了估计肾小球滤过率,中位数为 47.00 毫升/分钟/1.73 平方米。78.9%的患者患有肾囊肿,78.6%的患者患有胰腺发育不良,64.3%的患者患有低镁血症。HNF1B缺失患者与HNF1B点突变患者的糖尿病表型不同。 结论 HNF1B-DM 患者发病年龄较小、体重指数正常或较低、肾囊肿、胰腺发育不良和低镁血症。应建议患者进行基因检测,以便更早地将 HNF1BDM 与其他年轻发病型糖尿病区分开来。
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来源期刊
CiteScore
1.60
自引率
0.00%
发文量
109
审稿时长
6 months
期刊介绍: International Journal of Diabetes in Developing Countries is the official journal of Research Society for the Study of Diabetes in India. This is a peer reviewed journal and targets a readership consisting of clinicians, research workers, paramedical personnel, nutritionists and health care personnel working in the field of diabetes. Original research articles focusing on clinical and patient care issues including newer therapies and technologies as well as basic science issues in this field are considered for publication in the journal. Systematic reviews of interest to the above group of readers are also accepted.
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